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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829098868
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3014281
ClinVar RCV Id:
RCV003875920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373091.1:p.Glu1568Gln
CA357942059
NM_001386162.1:c.4702G>C